RGD:155918613 Rat Genome Database

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Variant: RGD:155918613 -  Homo sapiens

RGD ID: 155918613
ClinVar ID: CV2362663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRICD5  LOC129663732  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,260,213
GRCh38 16 2,210,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182563.4:c.250G>A
NC_000016.10:g.2210212C>T
NC_000016.9:g.2260213C>T
NM_182563.3:c.250G>A
More... 		12/13/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BRICD5
Accession:XM_047433958
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPASCCAERPKPGPTGVKTKPSCGGWRAVSLLLLLLLLVLAAVGVVAGGLLGSAQGPPKPRLQTLRMTLPSPHMPRPNQ
TILMDVARNAATITVTPPQSNHSWAVLFDGQSGCICYRPEEHQVCFLRLMEDSDRETLRLLVDTSKVQEAWVPSQDTHHT
QELLAVQGSLEVDPAQAGALVQRLCMRTPIYWARRAEGESGPLWGKARPSGWFEELGAEPLEIHGTLATGPRRQRLIYLC
IDICFPSNICVSVCFYYLPD*

Gene Symbol:BRICD5
Accession:XM_047433959
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNPHDPSDPDARPGEDQALLRGLESREPAPAAAAAGAGRCGGCGWRASWLCSGPSQAKAADAANDPPEPPHAPAQPNHP
DGRGPERGDHHSDPTSEQPQLGGAVRRAEREWAGRGHPGRCRSGGPRLTPLPPQGCICYRPEEHQVCFLRLMEDSDRETL
RLLVDTSKVQEAWVPSQDTHHTQELLAVQGSLEVDPAQAGALVQRLCMRTPIYWARRAEGPRRQRLIYLCIDICFPSNIC
VSVCFYYLPD*

Gene Symbol:BRICD5
Accession:NM_182563
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPASCCAERPKPGPTGVKTKPSCGGWRAVSLLLLLLLLVLAAVGVVAGGLLGSAQGPPKPRLQTLRMTLPSPHMPRPNQ
TILMDVARNAATITVTPPQSNHSWAVLFDGQSGCICYRPEEHQVCFLRLMEDSDRETLRLLVDTSKVQEAWVPSQDTHHT
QELLAVQGSLEVDPAQAGALVQRLCMRTPIYWARRAEGPRRQRLIYLCIDICFPSNICVSVCFYYLPD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004215313 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BRICD5 CLINVAR